ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005278
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49441
ClinVar RCV Id:
RCV000042701
RCV000822377
RCV002336160
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Lys1586Glu
CA021601
NM_001318827.2:c.4756A>G